title: Outcomes of atypical spitz tumors with chromosomal copy number aberrations and conventional melanomas in children.
abstract: Death due to melanoma in childhood (up to 20 y of age) is a rare event, with an average of 18 cases reported annually in the United States. In this study we evaluated 2 subgroups of high-risk melanocytic neoplasms in childhood, specifically atypical Spitz tumors (ASTs) with chromosomal copy number changes and conventional melanomas. We analyzed the clinical, histologic, and molecular features of all cases and performed the Fisher exact test, logistic regression, and multivariate analysis to evaluate features associated with aggressive clinical behavior in these cases. Among the ASTs, all of which had 1 or more chromosomal copy number aberrations, the presence of homozygous 9p21 deletions and a positive sentinel lymph node were each found to be correlated with tumor extension beyond the sentinel lymph node, with P-values of 0.046 and 0.01, respectively. Two patients with ASTs that had homozygous 9p21 deletions developed brain metastasis, one of whom died of disease. Among the 21 conventional melanomas, 3 patients developed distant metastasis and died of disease. Chromosomal copy number aberrations evaluated by fluorescence in situ hybridization were present in the majority of the cases (16/18). Among conventional melanomas, we did not identify any clinical, histologic, or molecular features associated with aggressive behavior. The presence of 8q24 gains was seen almost exclusively in 6 amelanotic small cell melanomas in children of whom 1 died of disease. Characteristic chromosomal copy number aberrations may occur in specific subtypes of melanocytic neoplasms in children and may help with the classification and prognostication of these rare tumors.
authors.affiliation: *Department of Dermatology †Robert H. Lurie Cancer Center ‡Department of Pediatric Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago §§Abbott Molecular Laboratories, Des Plaines, IL Departments of §Pathology ∥Dermatology, University of Michigan Medical Center, Ann Arbor, MI ¶Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY **Department of Pathology, University of Pennsylvania, Philadelphia, PA ††Department of Pathology, Section of Dermatopathology ‡‡Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX ∥∥Department of Pathology and Laboratory Medicine, Dermatopathology, UCLA Medical Center, Los Angeles, CA #Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, The University of Sydney, NSW, Australia.
authors.forename: Pedram
authors.initials: P
authors.lastname: Gerami
authors.forename: Chelsea
authors.initials: C
authors.lastname: Cooper
authors.forename: Shirin
authors.initials: S
authors.lastname: Bajaj
authors.forename: Annette
authors.initials: A
authors.lastname: Wagner
authors.forename: Douglas
authors.initials: D
authors.lastname: Fullen
authors.forename: Klaus
authors.initials: K
authors.lastname: Busam
authors.forename: Richard A
authors.initials: RA
authors.lastname: Scolyer
authors.forename: Xiaowei
authors.initials: X
authors.lastname: Xu
authors.forename: David E
authors.initials: DE
authors.lastname: Elder
authors.forename: Ronnie M
authors.initials: RM
authors.lastname: Abraham
authors.forename: Victor G
authors.initials: VG
authors.lastname: Prieto
authors.forename: Joan
authors.initials: J
authors.lastname: Guitart
authors.forename: Ping
authors.initials: P
authors.lastname: Liu
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Pestova
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Barnhill
mesh_terms: D000293:Adolescent; D000367:Age Factors; D001315:Australia; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D016015:Logistic Models; D008207:Lymphatic Metastasis; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000401:mortality / Q000556:secondary; D015999:Multivariate Analysis; D018332:Nevus, Epithelioid and Spindle Cell / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D010641:Phenotype; D011379:Prognosis; D012307:Risk Factors; D012878:Skin Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D014481:United States